新疆地区维吾尔族青年男性SLC22A1基因多态性频率分布研究

发布时间：2018-12-13 04:19

【摘要】：目的:研究新疆维吾尔族健康青年男性SLC22A1(rs34059508,rs4646277,rs72552763)位点等位基因和基因型的频率分布,以及2型糖尿病(T2DM)家族史对SLC22A1基因突变的影响,为T2DM患者基因导向性盐酸二甲双胍个体化治疗提供理论依据。方法:招募新疆维吾尔族男性健康志愿者276例为研究对象,采集受试者外周血5ml,提取DNA,采用Snapshot技术平台分析受试者SLC22A1 基因(rs34059508,rs4646277,rs72552763)位点等位基因、基因型频率,并与亚洲人群、高加索人群、非裔美国人群等不同种族相关数据进行比较。结果:1.位点rs34059508等位基因G和A分布频率分别为99.8%、0.2%;基因型分布频率为:G/G99.6%,G/A0.4%,A/A0%;位点rs4646277等位基因C和T分布频率分别为97.1%、2.9%;基因型分布频率为:C/C94.2%,C/T5.8%,T/T0%;位点rs72552763等位基因G和T分布频率分别为80.6%、19.4%;基因型分布频率为:G/G 65.9%,G/T 29.3%,T/T 4.8%。SLC22A1 基因rs34059508,rs4646277,rs72552763位点基因频率分布符合Hardy-Weinberg遗传平衡,具有群体代表性(X2=0.009,P=0.927;X2 = 0.246,P=0.620;X2 = 0.034,P=0.224)。2.位点rs34059508基因位点等位基因及基因型频率同亚洲人群、高加索人群、非裔美国人群频率比较显示,差异有统计学意义(P0.05);其中,新疆维吾尔族人群SLC22A1基因rs34059508位点等位基因A频率低于高加索人群(P0.01);位点rs4646277位点等位基因及基因型频率同亚洲人群、高加索人群、非裔美国人群频率频率比较,差异有统计学意义(P0.05),其中,新疆维吾尔族人群SLC22A1基因rs4646277位点等位基因T频率高于汉族人群(P0.01);位点rs72552763在其他种族中未见突变相关报道。3.T2DM家族史阳性受试者19人,其中12例发生SLC22A1基因突变,突变率为63.16%(12/19),T2DM家族史阴性者208人,SLC22A1基因突变率为77.9%(162/208),二者比较无统计学差异(X2=1.367,P=0.242)。结论:新疆维吾尔族男性SLC22A1 基因(rs34059508、rs4646277、rs72552763)位点均有突变。突变率同其他种族比较有差异。位点rs72552763在其他种族中未见突变相关报道。未发现T2DM家族史与SLC22A1基因突变有关。
[Abstract]:Objective: to study the frequency distribution of alleles and genotypes of SLC22A1 (rs34059508,rs4646277,rs72552763) locus in healthy young Uygur men in Xinjiang, and to study the effect of type 2 diabetes mellitus (T2DM) family history on SLC22A1 gene mutation. To provide theoretical basis for individualized therapy of metformin hydrochloride in patients with T2DM. Methods: 276 healthy male volunteers from Xinjiang Uygur nationality were recruited. The peripheral blood samples were collected from 276 healthy volunteers. DNA, was extracted from the peripheral blood of the subjects and the alleles of SLC22A1 gene (rs34059508,rs4646277,rs72552763) loci were analyzed by Snapshot technique. The data were compared with Asian, Caucasian and African-American populations. Results: 1. The distribution frequency of rs34059508 allele G and A were 99.8 and 0.2.The frequency of genotype distribution was as follows: G / G99.6 and G / A0.4and Ar / A0, respectively. The frequencies of C and T alleles of rs4646277 locus were 97.1and 2.9.The genotypic frequencies were C / C 94.2and C / T 5.8T / T, respectively. The distribution frequency of rs72552763 allele G and T were 80.6 and 19.4, respectively. The frequency of genotype distribution was: G / G 65.9 and T / T 29.3and T / T 4.8%.SLC22A1 gene rs34059508,rs4646277,rs72552763 loci were in accordance with Hardy-Weinberg genetic balance and had population representativeness (X2 + 0.009 / P0. 927); X2 = 0.246 P0. 620, X2 = 0. 034, P0. 224). The allelic and genotype frequencies of rs34059508 locus were significantly higher than those of Asian population, Caucasian population and African American population (P0.05). The frequency of rs34059508 allele A of SLC22A1 gene in Xinjiang Uygur population was lower than that in Caucasian population (P0.01). The allelic and genotype frequencies of rs4646277 locus were significantly different from those of Asian population, Caucasian population and African American population (P0.05). The allele T frequency of rs4646277 locus of SLC22A1 gene in Xinjiang Uygur population was higher than that in Han nationality (P0.01). There were 19 positive subjects with 3.T2DM family history, 12 of them had SLC22A1 gene mutation, the mutation rate was 63.16% (12 / 19), and there were 208 cases with negative T2DM family history. The mutation rate of SLC22A1 gene was 77.9% (162 / 208). Conclusion: there are mutations in SLC22A1 gene (rs34059508,rs4646277,rs72552763) loci in Xinjiang Uygur males. The mutation rate was different from that of other races. No mutation at locus rs72552763 was reported in other races. No T2DM family history was found to be associated with SLC22A1 gene mutation.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R587.1

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